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Laboratory investigation of Wilson disease usually begins by measuring urine and blood copper levels and a copper-binding protein called caeruloplasmin. If these initial tests suggest the presence of Wilson’s disease more complex tests may then be carried out including a liver biopsy to measure the copper level in liver and measurement of copper in urine following a dose of the copper-binding drug penicillamine.

Blood tests of liver function and clotting may be abnormal if the liver disease is severe. Diagnosis may not always be straightforward because copper overload can also occur in other liver diseases. Genetic testing for the disease provides a definitive diagnosis and may be available in specialist centres.

Last Review Date: February 01, 2018